| Variant ID | 19150 |
|---|---|
| Entrez Gene ID | 1106 |
| Gene | CHD2 (GeneCards) |
| Location | hg19 15:93549892-93549892
hg38 15:93006662-93006662 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.93549892 C>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0958 |
| CADD Raw score (version 1.3) | 0.704363 (Deleterious) |
| FATHMM raw prediction score | 0.1916 (Tolerated) |
| Deleterious probability by DeFine | 0.3193 (Neutral) |
| Entrez Gene ID | 1106 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CHD2 (GeneCards) |
| Number of variants in CHD2 in this database | 8 (view all the variants) |
| Full name | chromodomain helicase DNA binding protein 2 |
| Band | 15q26.1 |
| Other IDs | Vega: OTTHUMG00000185958 OMIM: 602119 HGNC: HGNC:1917 Ensembl: ENSG00000173575 |
| Other names | EEOC |
| Summary | The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.14 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |